{{Rsnum
|rsid=281865025
|position=101780152
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000002888.1; RCV000031990.2
|CLNALLE=1
|CLNDBN=MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL; Pseudo-Hurler polydystrophy
|CLNDSDB=MedGen; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C2673375; NBK1828:NBK1875:C0033788:252600:577:65764006
|CLNHGVS=NC_000012.11:g.102173930C>T
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1875; 607840.0001
|Disease=MUCOLIPIDOSIS III ALPHA/BETA; Pseudo-Hurler polydystrophy
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=102173930
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281865025
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
}}{{PMID Auto
|PMID=15633164
|Title=A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
}}